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Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 1

Results: 6

1

Editorial.

Published in:

Molecular Syndromology, 2010, v. 1, n. 1, p. 1, doi. 10.1159/000280180

By:

Rauch, Anita

Publication type:

Article

2

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis.

Published in:

Molecular Syndromology, 2010, v. 1, n. 1, p. 2, doi. 10.1159/000276766

By:

Tartaglia, M.;
Zampino, G.;
Gelb, B.D.

Publication type:

Article

3

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.

Published in:

Molecular Syndromology, 2010, v. 1, n. 1, p. 27, doi. 10.1159/000276763

By:

Pawlik, B.;
Mir, A.;
Iqbal, H.;
Li, Y.;
Nürnberg, G.;
Becker, C.;
Qamar, R.;
Nürnberg, P.;
Wollnik, B.

Publication type:

Article

4

Periventricular Heterotopia in Common Microdeletion Syndromes.

Published in:

Molecular Syndromology, 2010, v. 1, n. 1, p. 35, doi. 10.1159/000274491

By:

van Kogelenberg, M.;
Ghedia, S.;
McGillivray, G.;
Bruno, D.;
Leventer, R.;
MacDermot, K.;
Nelson, J.;
Nagarajan, L.;
Veltman, J.A.;
de Brouwer, A.P.;
McKinlay Gardner, R.J.;
van Bokhoven, H.;
Kirk, E.P.;
Robertson, S.P.

Publication type:

Article

5

A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally.

Published in:

Molecular Syndromology, 2010, v. 1, n. 1, p. 42, doi. 10.1159/000275671

By:

Baple, E.;
Palmer, R.;
Hennekam, R.C.M.

Publication type:

Article

6

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.

Published in:

Molecular Syndromology, 2010, v. 1, n. 1, p. 46, doi. 10.1159/000280290

By:

de Bruijn, D.R.H.;
van Dijk, A.H.A.;
Pfundt, R.;
Hoischen, A.;
Merkx, G.F.M.;
Gradek, G.A.;
Lybæk, H.;
Stray-Pedersen, A.;
Brunner, H.G.;
Houge, G.

Publication type:

Article